Prenatal diagnosis of gall bladder anomalies—report of 17 cases

Abstract

We describe here 17 cases of fetal gall bladder anomalies, detected as early as the 14th week of gestation, out of 10,016 fetal systemic examinations performed by us in the last 6 years (0.15 per cent). In seven cases, agenesis of the fetal gall bladder was detected. The diagnosis was confirmed by post-abortal examination in five cases and in two post-partum. In six other cases, a left-sided gall bladder and in one case, a 'floating' gall bladder were detected at 15 weeks' gestation. In two cases, a septated or bilobed gall bladder was visualized. None of these 15 cases was dyskaryotic, but in five cases, two with agenesis and three left-sided gall bladders were associated with other fetal malformations. In two other cases, the gall bladder appeared dysmorphic on sonographic examination and in both of them intrauterine growth retardation and other anomalies were detected. Trisomy 18 was diagnosed by amniocentesis in one of them. According to our experience, failure to visualize the fetal gall bladder by the 15th gestational week is diagnostic of its absence and should raise the differential diagnosis between gall bladder atresia, which has a good prognosis, and external biliary atresia, which has a poor prognosis. Further experience is needed to characterize the various gall bladder malformations and their prognosis.

Nonvisualization of the fetal gallbladder by second‐trimester ultrasound scan: strategy of clinical management based on four examples

“…Nonvisualization of the fetal gallbladder is rare and occurs in 0.1% to 0.15% of pregnancies (Bronshtein et al, 1993;Blazer et al, 2002), Hertzberg et al (1996) reported a frequency of 7.1%, which may be explained by the small number of patients included between 20 and 24 weeks of gestation (n = 84).…”

“…In three prospective studies, isolated agenesis of the gallbladder explained 12 to 28% of nonvisualization of the gallbladder (Bronshtein et al, 1993;Blazer et al, 2002;Ochshorn et al, 2007). In the present study, amniotic fluid digestive enzymes assays were performed in two of the four cases (amniocentesis not performed in one case and enzymes were not assayed in the other).…”

“…When nonvisualization of the gallbladder is confirmed by a second US examination performed 7 to 15 days later, the etiology should be investigated because of the association with various abnormalities, such as renal agenesis, hydronephrosis, cerebral ventricular dilatation, chromosomal anomalies (particularly trisomy 21), cystic fibrosis, biliary atresia, and multiple malformation (Bennion et al, 1988;Bronshtein et al, 1993;Duchatel et al, 1993;Albayram et al, 2002;Ben-Ami et al, 2002;Simon-Bouy et al, 2002;Blazer et al, 2002;Ochshorn et al, 2007). However, the absence of indications in the US does not exclude severe abnormalities, such as cystic fibrosis or biliary duct atresia.…”

“…Nonvisualization of the fetal gallbladder may indicate abnormalities ranging from gallbladder agenesis without serious clinical sequelae to biliary atresia, which carries a poor prognosis (Bronshtein et al, 1993;Chardot, 2006;Ochshorn et al, 2007). In such cases, a gallbladder undetected prenatally is sometimes visualized postnatally in a disease-free child (Hertzberg et al, 1996;Blazer et al, 2002).…”

Prenatal ultrasound diagnosis of cystic biliary atresia

“…Nonvisualization of the gallbladder during the second trimester ultrasound should prompt concern for BA 3, 4, 5. Other gallbladder abnormalities can be diagnosed prenatally such as agenesis, left‐sided, septated or bilobed gallbladder 6. The diagnosis of BA is more challenging when the gallbladder is visible.…”